Inheritance of an autosomal dominant disorder 12 A/a ala 1 2 ala ala 3 4 ala Ala 67 A/a ala 5 ala 1 2 3 4 5 6 7 8 9 10 11 12 13 ala ala ala ala Ala ala Ala ala a/a ala Ala ala A/a FIGURE 2-23 Pedigree of a dominant phenotype determined by a dominant allele A. In this pedigree, all the genotypes digits), shown in have been deduced. sorders show

Inheritance of an autosomal dominant disorder 12 A/a ala 1 2 ala ala 3 4 ala Ala 67 A/a ala 5 ala 1 2 3 4 5 6 7 8 9 10 11 12 13 ala ala ala ala Ala ala Ala ala a/a ala Ala ala A/a FIGURE 2-23 Pedigree of a dominant phenotype determined by a dominant allele A. In this pedigree, all the genotypes digits), shown in have been deduced. sorders show

Name: . Which part of the pedigree in Figure 2-23 in your opinion best demon
Uploaded: 2024-03-20T06:43:04.000Z
Channel: Bartleby
Description: . Which part of the pedigree in Figure 2-23 in your opinion best demonstrates Mendel’s first law? Inheritance of an autosomal dominant disorder12A/a ala1 2ala ala3 4ala Ala67A/a ala5ala1 2 3 4 5 6 7 8 9 10 11 12 13ala ala ala ala Ala ala Ala ala a/a

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter11: Genome Alterations: Mutation And Epigenetics

Section: Chapter Questions

Problem 16QP: Familial retinoblastoma, a rare autosomal dominant defect, arose in a large family that had no prior...

See similar textbooks

Similar questions

A couple was referred for genetic counseling because they wanted to know the chances of having a child with dwarfism. Both the man and the woman had achondroplasia (MIM 100800), the most common form of short-limbed dwarfism. The couple knew that this condition is inherited as an autosomal dominant trait, but they were unsure what kind of physical manifestations a child would have if it inherited both mutant alleles. They were each heterozygous for the FGFR3 (MIM 134934) allele that causes achondroplasia. Normally, the protein encoded by this gene interacts with growth factors outside the cell and receives signals that control growth and development. In achrodroplasia, a mutation alters the activity of the receptor, resulting in a characteristic form of dwarfism. Because both the normal and mutant forms of the FGFR3 protein act before birth, no treatment for achrondroplasia is available. The parents each carry one normal allele and one mutant allele of FGRF3, and they wanted information on their chances of having a homozygous child. The counsellor briefly reviewed the phenotypic features of individuals with achondroplasia. These include facial features (large head with prominent forehead; small, flat nasal bridge; and prominent jaw), very short stature, and shortening of the arms and legs. Physical examination and skeletal X-ray films are used to diagnose this condition. Final adult height is approximately 4 feet. Because achondroplasia is an autosomal dominant condition, a heterozygote has a 1-in-2, or 50%, chance of passing this trait to his or her offspring. However, about 75% of those with achondroplasia have parents of average size who do not carry the mutant allele. In these cases, achondroplasia is due to a new mutation. In the couple being counseled, each individual is heterozygous, and they are at risk for having a homozygous child with two copies of the mutated gene. Infants with homozygous achondroplasia are either stillborn or die shortly after birth. The counselor recommended prenatal diagnosis via ultrasounds at various stages of development. In addition, a DNA test is available to detect the homozygous condition prenatally. What if the couple wanted prenatal testing so that a normal fetus could be aborted?
A couple was referred for genetic counseling because they wanted to know the chances of having a child with dwarfism. Both the man and the woman had achondroplasia (MIM 100800), the most common form of short-limbed dwarfism. The couple knew that this condition is inherited as an autosomal dominant trait, but they were unsure what kind of physical manifestations a child would have if it inherited both mutant alleles. They were each heterozygous for the FGFR3 (MIM 134934) allele that causes achondroplasia. Normally, the protein encoded by this gene interacts with growth factors outside the cell and receives signals that control growth and development. In achrodroplasia, a mutation alters the activity of the receptor, resulting in a characteristic form of dwarfism. Because both the normal and mutant forms of the FGFR3 protein act before birth, no treatment for achrondroplasia is available. The parents each carry one normal allele and one mutant allele of FGRF3, and they wanted information on their chances of having a homozygous child. The counsellor briefly reviewed the phenotypic features of individuals with achondroplasia. These include facial features (large head with prominent forehead; small, flat nasal bridge; and prominent jaw), very short stature, and shortening of the arms and legs. Physical examination and skeletal X-ray films are used to diagnose this condition. Final adult height is approximately 4 feet. Because achondroplasia is an autosomal dominant condition, a heterozygote has a 1-in-2, or 50%, chance of passing this trait to his or her offspring. However, about 75% of those with achondroplasia have parents of average size who do not carry the mutant allele. In these cases, achondroplasia is due to a new mutation. In the couple being counseled, each individual is heterozygous, and they are at risk for having a homozygous child with two copies of the mutated gene. Infants with homozygous achondroplasia are either stillborn or die shortly after birth. The counselor recommended prenatal diagnosis via ultrasounds at various stages of development. In addition, a DNA test is available to detect the homozygous condition prenatally. Should the parents be concerned about the heterozygous condition as well as the homozygous mutant condition?
the offspring ès) can often be autosomal I 1.1 III ad amalg od no IV 9 OTO 5 0000 anivellor and goje If individual 2 were to marry a woman with no family history of the disease, which of the following would most likely be true of their children? a. All of the children would have the disease. b. None of the children would have the disease. c. Only the sons would have the disease. d. All of the sons would be carriers of the disease. e. None of the daughters would be carriers of the disease.
In mice, the autosomal locus coding for the β-globinchain of hemoglobin is 1 m.u. from the albino locus. Assume for the moment that the same is true in humans. The disease sickle-cell anemia is the result ofhomozygosity for a particular mutation in theβ-globin gene.a. A son is born to an albino man and a woman withsickle-cell anemia. What kinds of gametes will theson form, and in what proportions?b. A daughter is born to a normal man and a womanwho has both albinism and sickle-cell anemia.What kinds of gametes will the daughter form,and in what proportions?c. If the son in part (a) grows up and marries thedaughter in part (b), what is the probability that achild of theirs will be an albino with sickle-cellanemia?
70 T 꿈 ㅁ ㅁ 이어어어어어어 In the pedigree shown, indicate whether each of the following inheritance patterns is possible by selecting YES or NO from the appropriate drop down menu. Y-linked Autosomal Recessive Autosomal Dominant X-linked Recessive X-linked Dominant ()
Achondroplasia is a rare dominant autosomal defect resulting in dwarfism. The unaffected brother of an individual with achondroplasia is seeking counsel on the likelihood of his being a carrier of the mutant allele. What is the probability that the unaffected client is carrying the achondroplasia allele?
Mike was referred for genetic counseling because he was concerned about his extensive family history of colon cancer. That family history was highly suggestive of hereditary nonpolyposis colon cancer (HNPCC). This predisposition is inherited as an autosomal dominant trait, and those who carry the mutant allele have a 75% chance of developing colon cancer by age 65. Mike was counseled about the inheritance of this condition, the associated cancers, and the possibility of genetic testing (on an affected family member). Mikes aunt elected to be tested for one of the genes that may be altered in this condition and discovered that she did have an altered MSH2 gene. Other family members are in the process of being tested for this mutation. Once a family member is tested for the mutant allele, is it hard for other family members to remain unaware of their own fate, even if they did not want this information? How could family dynamics help or hurt this situation?
Mike was referred for genetic counseling because he was concerned about his extensive family history of colon cancer. That family history was highly suggestive of hereditary nonpolyposis colon cancer (HNPCC). This predisposition is inherited as an autosomal dominant trait, and those who carry the mutant allele have a 75% chance of developing colon cancer by age 65. Mike was counseled about the inheritance of this condition, the associated cancers, and the possibility of genetic testing (on an affected family member). Mikes aunt elected to be tested for one of the genes that may be altered in this condition and discovered that she did have an altered MSH2 gene. Other family members are in the process of being tested for this mutation. Is colon cancer treatable? What are the common treatments, and how effective are they?
Mike was referred for genetic counseling because he was concerned about his extensive family history of colon cancer. That family history was highly suggestive of hereditary nonpolyposis colon cancer (HNPCC). This predisposition is inherited as an autosomal dominant trait, and those who carry the mutant allele have a 75% chance of developing colon cancer by age 65. Mike was counseled about the inheritance of this condition, the associated cancers, and the possibility of genetic testing (on an affected family member). Mikes aunt elected to be tested for one of the genes that may be altered in this condition and discovered that she did have an altered MSH2 gene. Other family members are in the process of being tested for this mutation. Seventy-five percent of people who carry the mutant allele will get colon cancer by age 65. This is an example of incomplete penetrance. What could cause this?
Phenylketonuria and alkaptonuria are both autosomal recessive diseases. If a person with PKU marries a person with AKU, what will the phenotype of their children be?
Familial retinoblastoma, a rare autosomal dominant defect, arose in a large family that had no prior history of the disease. Consider the following pedigree (the darkly colored symbols represent affected individuals): a. Circle the individual(s) in which the mutation most likely occurred. b. Is the person who is the source of the mutation affected by retinoblastoma? Justify your answer. c. Assuming that the mutant allele is fully penetrant, what is the chance that an affected individual will have an affected child?
Analysis of X-Linked Dominant and Recessive Traits As a genetic counselor investigating a genetic disorder in a family, you are able to collect a four-generation pedigree that details the inheritance of the disorder in question. Analyze the information in the pedigree to determine whether the trait is inherited as: a. autosomal dominant b. autosomal recessive c. X-linked dominant d. X-linked recessive e. Y-linked